Recombinant Human Patched / PTCH1 protein (ab114226)

製品の概要

製品の詳細

  • 由来Recombinant
  • 由来Wheat germ
  • アミノ酸配列
    • アクセッション番号Q13635
    • 生物種Human
    • 配列PKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQT GSRDKPIDISQLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQAN
    • 分子量37 kDa including tags
    • 領域841 to 940
    • タグGST tag N-Terminus

特性

Our Abpromise guarantee covers the use of ab114226 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • アプリケーション

    ELISA

    SDS-PAGE

    Western blot

  • 製品の状態Liquid
  • 備考Protein concentration is above or equal to 0.05 mg/ml.
    Best use within three months from the date of receipt of this protein.
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

関連情報

  • 別名
    • A230106A15Rik
    • BCNS
    • FLJ26746
    • FLJ42602
    • Holoprosencephaly 7
    • HPE7
    • mes
    • NBCCS
    • OTTHUMP00000021709
    • OTTHUMP00000021710
    • Patched
    • Patched (Drosophila) homolog
    • Patched 1
    • Patched homolog (Drosophila)
    • Patched homolog 1
    • Patched homolog 1 (Drosophila)
    • Patched protein homolog 1
    • Protein patched homolog 1
    • PTC
    • PTC1
    • PTC1_HUMAN
    • PTCH
    • PTCH protein
    • PTCH protein +12b
    • PTCH protein +4'
    • PTCH protein -10
    • ptch1
    • PTCH1 protein
    • PTCH11
    • Ptch2
    see all
  • 機能Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.
  • 組織特異性In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.
  • 関連疾患Defects in PTCH1 are probably the cause of basal cell nevus syndrome (BCNS) [MIM:109400]; also known as Gorlin syndrome or Gorlin-Goltz syndrome. BCNS is an autosomal dominant disease characterized by nevoid basal cell carcinomas (NBCCS) and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas (BCC), fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. PTCH1 is also mutated in squamous cell carcinoma (SCC). Could also be associated with large body size observed in BCNS patients.
    Defects in PTCH1 are a cause of sporadic basal cell carcinoma (BCC) [MIM:605462].
    Defects in PTCH1 are the cause of holoprosencephaly type 7 (HPE7) [MIM:610828]. Holoprosencephaly (HPE) [MIM:236100] is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.
  • 配列類似性Belongs to the patched family.
    Contains 1 SSD (sterol-sensing) domain.
  • 発生段階In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud.
  • 翻訳後修飾Glycosylation is necessary for SHH binding.
  • 細胞内局在Membrane.
  • Information by UniProt

Recombinant Human Patched / PTCH1 protein 画像

  • ab114226 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

Recombinant Human Patched / PTCH1 protein (ab114226) 使用論文

ab114226 has not yet been referenced specifically in any publications.

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